XPV
MCID: XRD010
MIFTS: 24

Xeroderma Pigmentosum, Variant Type (XPV) malady

Eye, Skin, Fetal, Cancer categories

Summaries for Xeroderma Pigmentosum, Variant Type

Sources:
47OMIM, 33MalaCards
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MalaCards: Xeroderma Pigmentosum, Variant Type, also known as XPV, is related to xeroderma pigmentosum and angiosarcoma, and has symptoms including skin photosensitivity, abnormal pigmentary skin changes/skin pigmentation anomalies and excessive freckling. An important gene associated with Xeroderma Pigmentosum, Variant Type is POLH (polymerase (DNA directed), eta).

Description from OMIM:47 278750

Aliases & Classifications for Xeroderma Pigmentosum, Variant Type

Sources:
43NIH Rare Diseases, 22GTR, 47OMIM, 61UMLS, 49Orphanet, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal, Cancer
Anatomical: Eye, Skin


Characteristics (Orphanet epidemiological data):

49
xpv:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Adolescence / Young adulthood


Aliases & Descriptions:

xeroderma pigmentosum, variant type 43 22 47 61
xpv 43 49
xeroderma pigmentosum with normal dna repair rates 43
photosensitivity with defective dna synthesis 43
xeroderma pigmentosum variant 49


External Ids:

OMIM47 278750
MESH via Orphanet36 C536766
ICD10 via Orphanet26 Q82.1
SNOMED-CT via Orphanet58 88877002
UMLS via Orphanet62 C0432328, C1848410
ICD1025 Q82.1

Related Diseases for Xeroderma Pigmentosum, Variant Type

Sources:
17GeneCards, 18GeneDecks
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Graphical network of diseases related to Xeroderma Pigmentosum, Variant Type:



Diseases related to xeroderma pigmentosum, variant type

Clinical Features for Xeroderma Pigmentosum, Variant Type

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

278750

Clinical synopsis from OMIM:

278750

Symptoms:

49 (show all 10)
  • skin photosensitivity
  • abnormal pigmentary skin changes/skin pigmentation anomalies
  • excessive freckling
  • telangiectasic erythema/poikiloderma
  • warts/papillomas
  • autosomal recessive inheritance
  • skin hypoplasia/aplasia/atrophy
  • dry/squaly skin/exfoliation
  • telangiectasiae of the skin
  • skin/cutaneous neoplasm/tumor/carcinoma/cancer (excluding melanoma)

Drugs & Therapeutics for Xeroderma Pigmentosum, Variant Type

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Xeroderma Pigmentosum, Variant Type

Drug clinical trials:

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Search NIH Clinical Center for Xeroderma Pigmentosum, Variant Type

Search CenterWatch for Xeroderma Pigmentosum, Variant Type

Genetic Tests for Xeroderma Pigmentosum, Variant Type

Sources:
22GTR
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Genetic tests related to Xeroderma Pigmentosum, Variant Type:

id Genetic test Affiliating Genes
1 Xeroderma Pigmentosum, Variant Type22

Anatomical Context for Xeroderma Pigmentosum, Variant Type

Animal Models for Xeroderma Pigmentosum, Variant Type or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Xeroderma Pigmentosum, Variant Type

Sources:
51PubMed
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Articles related to Xeroderma Pigmentosum, Variant Type:

idTitleAuthorsYear
1
Three school-age cases of xeroderma pigmentosum variant type. (23651273)
2013
2
Identification of a novel nonsense mutation in POLH in a Chinese pedigree with xeroderma pigmentosum, variant type. (23630442)
2013
3
Four types of possible founder mutations are responsible for 87% of Japanese patients with Xeroderma pigmentosum variant type. (18703314)
2008
4
Molecular analysis of DNA polymerase eta gene in Japanese patients diagnosed as xeroderma pigmentosum variant type. (17344931)
2007

Genetic Variations for Xeroderma Pigmentosum, Variant Type

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Xeroderma Pigmentosum, Variant Type:

63
id Symbol AA change Variation SNP ID
1POLHp.Arg111HisVAR_021227
2POLHp.Thr122ProVAR_021228
3POLHp.Gly263ValVAR_021230
4POLHp.Arg361SerVAR_021232
5POLHp.Lys535GluVAR_021234rs56307355
6POLHp.Lys589ThrVAR_021236

Expression for genes affiliated with Xeroderma Pigmentosum, Variant Type

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Xeroderma Pigmentosum, Variant Type

Search GEO for disease gene expression data for Xeroderma Pigmentosum, Variant Type.

Pathways for genes affiliated with Xeroderma Pigmentosum, Variant Type

Compounds for genes affiliated with Xeroderma Pigmentosum, Variant Type

GO Terms for genes affiliated with Xeroderma Pigmentosum, Variant Type

Products for genes affiliated with Xeroderma Pigmentosum, Variant Type

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Xeroderma Pigmentosum, Variant Type

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet